Deficiency Causing Mutations and Common Polymorphisms in the Factor XIII-A Gene

L. Muszbek

doi:10.1055/s-0037-1614061

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2000; 84(04): 524-527
DOI: 10.1055/s-0037-1614061

Commentary

Schattauer GmbH

Deficiency Causing Mutations and Common Polymorphisms in the Factor XIII-A Gene

Authors

L. Muszbek

¹From the Department of Clinical Biochemistry and Molecular Pathology, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary

Abstract

Summary

Blood coagulation factor XIII (FXIII), for its unique features, used to be considered a stepchild among clotting factors. In contrast to other proenzyme clotting factors, it is the precursor of a transglutaminase and not of a proteolytic enzyme. By cross-linking peptide-bound glutamine and lysine side chains transglutaminases make, rather than break, peptide bonds. Activated FXIII (FXIIIa) cross-links fibrin α-chains and γ-chains and covalently attaches α₂-plasmin inhibitor to fibrin α-chains to strengthen fibrin mechanically and to protect it from fibrinolysis. In addition to being a clotting factor, FXIII is also an intracellular proenzyme present in platelets and monocytes/macrophages. The plasma factor is of heterotetrameric structure consisting of two potentially active A (FXIII-A) and two inhibitory/protective B (FXIII-B) subunits (A₂B₂), while its cellular counterpart is a dimer of FXIII-A. Plasma FXIII is activated by the concerted action of thrombin and Ca₂₊. Thrombin cleaves FXIII-A at Arg37-Gly38, then in the presence of Ca2+ FXIII-B dissociates and FXIII-A assumes an active configuration (reviewed in ref. 1).

Full Text

References

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